RGD:28870068 Rat Genome Database

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Variant: RGD:28870068 -  Homo sapiens

RGD ID: 28870068
RS ID: rs750730715
ClinVar ID: CV872177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,237,566
GRCh38 12 102,843,788
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.103237566C>T
NM_000277.1:c.1066-9G>A
NM_000277.3:c.1066-9G>A
NM_001354304.2:c.1066-9G>A
More... 		01/13/2018 intron variant uncertain significance Folling disease; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Gene Symbol:PAH
Accession:NM_000277
Location:INTRON

Gene Symbol:PAH
Accession:NM_001354304
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001113391 CLINVAR
dbSNP (RS) rs750730715 CLINVAR
MedGen C0031485 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR